NTCC® NA01031 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA01031

Name：NTCC® NA01031 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01031
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 53 YR
Gender性别: Male
Description描述: GAUCHER DISEASE, TYPE III | GLUCOSIDASE, ACID BETA; GBA
Remarks: Father of a Juvenile Gaucher; low-normal acid B-glucosidase; proband not in Repository; spouse of GM01030; the donor has a splicing mutation in IVS2 at the +1 nucleotide in the GBA gene (IVS2+1G>A) resulting in destruction of the consensus donor site for GBA mRNA splicing and the skipping of exon 2 (codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene:
Disease疾病类型:
Mutations突变:
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net